Amniocentesis is the sampling of amniotic fluid, which is recommended in pregnancies at high risk of fetal chromosomal defects. Its aim is to exclude or confirm fetal genetic anomaly.

Amniocentesis can be performed from 15 gestational weeks (15 + 0), before 15 weeks an alternative invasive test called CVS (chorionic villus sampling) is recommended. Amniocentesis involves passing a thin needle into the uterus in order to obtain a small volume of amniotic fluid. Movement of the needle is carefully controlled by ultrasound scan. A sample of amniotic fluid (about 18 ml) is then sent for genetic analysis to a cytogenetic laboratory. Because a needle needs to be inserted into the uterine cavity, amniocentesis is an invasive test and slightly increases the risk of miscarriage (by about 0.5%). The procedure itself is not more painful than taking a blood sample. After the procedure you may experience some abdominal discomfort or period-like pain, but this should resolve within 1 – 2 days. You may find it helpful to take a basic painkiller such as paracetamol.

Initial results of the presence of the most frequent chromosomal defects are available within 2 working days after the procedure, complete results available usually within 2 weeks. You will be informed of the first results by a phone call from us or from the clinical geneticists. Complete results should be passed to you at counselling so are sent to a clinical geneticist, who will also be able explain them fully to you.

Further recommended scans in case of a normal result:

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Pregnancy care Invasive tests Amniocentesis